• Childhood Kidney Diseases
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• v.1 no.2
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• pp.144-150
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• 1997

Purpose : The kidney is one of the most common sites of cyst formation. Cystic diseases of the kidney are a diverse group of clinicopathologic entities and variable prognosis. They span a wide range of both age of presentation and severity of the renal disease. And many of them are systemic disorders, sharing similar process of cyst formation in other organs. Recently, development of imaging studies has been contributing widely to the diagnosis of the diseases. Treatment, however, is not established satisfactorily. We performed this study to evaluate the occurrence and treatment of cystic diseases of the kidney. Methods : We reviewed retrospectively the medical records of 44 patients with cystic diseases of the kidney in the Department of Pediatrics, during last 11 years. Results : In the 44 patients with cystic diseases of the kidney, 31 patients(71%) had multicystic dysplastic kidney and 11(35%) of them received nephrectomy due to differentiation from neoplasms or severe abdominal distension. Seven patients(16%) had polycystic kidney disease, and all of them were infantile type. Five patients(11%) were diagnosed as having a simple renal cysts. Progression to renal failure was noted in none of the cases. In 14(32%) out of total 44 patients, the diagnosis was made in neonatal or infantile pelted. Conclusion : The incidence of cystic diseases of the kidney appeared very low, but further investigation on their pathogenesis, classification, and indication of treatment is needed.

• Clinical and Experimental Pediatrics
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• v.48 no.8
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• pp.877-880
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• 2005

Purpose : Glycogen storage disease type Ia(GSD Ia) is an autosomal recessive disorder caused by the deficiency of glucose-6-phosphatase(G6Pase). The aim of the study was to investigate the spectrum of G6Pase gene mutations and relationship between genotype and clinical findings in Korean patients with GSD Ia. Methods : Genomic DNA was extracted from peripheral leukocytes of 20 patients with GSD Ia. The five exons of G6Pase gene were amplified and PCR products were directly sequenced. The frequency of short stature, hypoglycemia, hypercholesterolemia, hyperuricemia, hypercalciuria, nephrocalcinosis and hepatic adenoma was compared between 727G>T homozygotes and 727G>T compound heterozygotes. Results : A total of 5 different mutations were identified. The most common mutation was the 727G>T with an allele frequency of 80%. All patients were either homozygous(12/20) or heterozygous(8/20) for the 727G>T mutation. G122D was found in 3 patients, P178A in 1, G222R in 2, and S339R in 2. There was no difference in the frequency of short stature, hypoglycemia, hypercholesterolemia, hyperuricemia, nephrocalcinosis, and hepatic adenoma between 727G>T homozygotes and heterozygotes. Conclusion : Diagnosis of GSD Ia can be based on clinical and biochemical abnormalities combined with mutation analysis instead of enzymatic diagnosis that requires liver biopsy. Homozygosity for the 727G>T does not seem to alter the disease phenotype as compared with the heterozygous state.

• Clinical and Experimental Pediatrics
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• v.49 no.7
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• pp.796-799
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• 2006

Multicystic dysplastic kidney and congenital cystic adenomatoid malformation of the lung are independent disorders, but both result from abnormal morphogenesis during embryogenesis. Congenital cystic adenomatoid malformation of the lung is associated with renal anomalies as well as other extrapulmonary anomalies and almost all cases with these anomalies are stillborn. We report a case of a 21-month-old male who was admitted with the impression of acute infectious gastroenteritis; multicystic dysplastic kidney with congenital cystic adenomatoid malformation of the lung was detected incidentally during evaluation.

• Journal of Genetic Medicine
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• v.7 no.2
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• pp.145-150
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• 2010

Acrodysostosis is an extremely rare disorder characterized by short fingers and toes with peripheral dysostosis, nasal hypoplasia, and mental retardation. We report a 16-year-old Korean boy with acrodysostosis who had characteristic clinical features and cervical spine stenosis manifested by neurologic symptoms. On presentation, he complained of difficulty in raising his arms, and suffered from intermittent pain and weakness in both upper extremities. He had short stature and dysmorphic facial features, including a broad, depressed nasal bridge, small, upturned nose, bilateral epicanthal folds, and mild hypertelorism. Moderate mental retardation and sensorineural hearing loss in both ears were also present. Radiological findings included broad, short metacarpals and phalanges with cone-shaped epiphyses, bilateral Madelung deformities, hypertrophied first metatarsals, and thickening of the calvarium. Magnetic resonance imaging findings included stenosis of the cervical spine, platybasia with compression into the cervicomedullary junction, and downward displacement of the cerebellar tonsils. Here, we report a case of acrodysostosis with symptoms and signs of cervical spinal stenosis first in Korea. If it is diagnosed in the early stages, possible life-threatening complications, including spinal canal stenosis, can be managed properly and permanent neurologic sequelae might be avoided. Therefore, it is important to consider acrodysostosis in the differential diagnosis of peripheral dysostosis.

• The Korean Journal of Nuclear Medicine
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• v.35 no.6
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• pp.378-388
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• 2001

Purpose: In this study, we developed a new method for the determination of renal depth with anterior and posterior renal scintigrams in a dual-head gamma camera, considering the attenuation factor $e^{-{\mu}x}$ of the conjugate-view method. Material and Method: We developed abdomen and kidney phantoms to perform experiments using Technetium-99m dimercaptosuccinic acid ($^{99m}Tc$-DMSA). The phantom images were obtained by dual-head gamma camera equipped with low-energy, high-resolution, parallel-hole collimators (ICONf, Siemens). The equation was derived from the linear integration of omission ${\gamma}$-ray considering attenuation from the posterior abdomen to the anterior abdomen phantom surface. The program for measurement was developed by Microsoft Visual C++ 6.0. Results : Renal depths of the phantoms were derived from the derived equations and compared with the exact geometrical values. Differences between the measured and the calculated values were the range of 0.1 to 0.7 cm ($0.029{\pm}0.15cm,\;mean{\pm}S.D.$). Conclusion: The present study showed that the use of the derived equations for renal depth measurements, combined with quantitative planar imaging using dual-head gamma camera, could provide more accurate results for individual variation than the conventional method.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.1
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• pp.49-54
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• 2015

Multiple epiphyseal dysplasia (MED) is one of the more common skeletal dysplasias. MED is characterized by joint pain and stiffness, a waddling gait, and/or mild short stature in childhood. Radiographic findings include delayed and irregular ossification of the epiphyses in multiple joints. Mutations in at least six different genes (COMP, MATN3, COL9A1, COL9A2, COL9A3, and DTDST) can cause MED, and it can be either dominant or recessive inheritance. Molecular diagnosis is important for accurate prognosis and genetic counselling. COMP mutation is the most common form of MED in Western. But, MATN3 mutation was reported as the most common type of MED in Korea. Here, we describe a boy who was diagnosed as MED by clinical and radiological features. Hip radiograph of the patient was suggested MATN3 mutation. But knee radiograph was suggested COMP mutation. MATN3 and COMP mutations direct sequencing, but were no mutation. So we tested whole exome sequencing, but significant variant was not detected as known MED six genes mutations. The patient was diagnosed as having MED clinically and radiologically. Further study to identify the other responsible genes for MED is needed.

• Childhood Kidney Diseases
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• v.14 no.1
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• pp.42-50
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• 2010

Purpose : The clinical characteristics and associated anomalies in children with solitary kidney (SK) were analyzed retrospectively. Methods : Total 38 children diagnosed to have SK at our hospital between December 1989 and December 2009 were recruited, and the clinical records including imaging studies were retrospectively reviewed. SK was defined as unilateral renal agenesis by imaging studies only, and patients with regression of unilateral dysplastic kidney were excluded. Results : Among total 38 patients, 12 were male. The median age at the diagnosis of SK was 6.5 months (at birth-13 years). SK was detected by prenatal ultrasonography in 14 patients and during work-up for renal or urinary tract diseases in 13 (including urinary tract infection in 7). In 10 patients, SK was detected incidentally. Anomalies in the SK were noted in 17 patients including vesicoureteral reflux in 11. Other anomalies in the genitourinary tract were present in 16 patients, and multi-organ-involving syndromes or chromosomal anomalies were detected in 9. The mean duration of follow-up was 9 years (9 months-20 years). Two patients developed chronic renal failure during follow-up, and the median serum creatinine concentration of the remaining 36 at their last follow-up was 0.6 mg/dL. Conclusion : SK may be isolated and clinically asymptomatic; it is frequently accompanied by other anomalies in genitourinary tract and other organs, some of which can induce progressive renal dysfunction. Early recognition of associated anomalies with SK and regular follow-up is recommended to reduce long-term risk.

• Tunnel and Underground Space
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• v.24 no.5
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• pp.395-403
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• 2014

In this study, a steel pipe type rockbolt manufactured from special material was developed which has high strength and lightweight characteristics. Achievement of grout filling between rockbolt and hole wall was investigated through grout injection tests. Yield force of the developed rockbolt was also examined through tensile tests, which was compared with that of the deformed bar type rockbolt. In addition, the strength and elongation properties of the developed rockbolt were investigated through pull-out tests at three domestic sites showing different RMR classes. It is finally supposed that the developed rockbolt can be suitable for the permanent tunnel support because it has high strength and high durability rather than deformed bar type rockbolt.

• Childhood Kidney Diseases
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• v.8 no.1
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• pp.57-62
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• 2004

Schinzel-Giedion syndrome is a rare, distinct dysmorphic syndrome characterized by congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation, likely to be inherited as an autosomal recessive trait, but not yet confirmed. This syndrome is characterized by coarse facial features such as midfacial retraction, bulging forehead, short nose with anteverted nostrils, low-set malformed ears, protruding large tongue, and hypertelorism. Skeletal and limb defects, choanal stenosis, simian creases, hypospadias, microphallus, hypertrichosis, and intractable seizures are the frequently associated clinical findings. Urogenital involvement is a major component of the syndrome, and this problem sometimes is associated with nephrocalcinosis and urinary tract infection in the clinical course of the disease. We report a 22 month-old girl with Schinzel-Giedion syndrome complicated by medullary nephrocalcinosis and urinary tract infection due to Klebsiella pneumoniae. This patient had also been suffering from postnatal growth deficiency, intractable seizure, spastic tetraplegia, delayed development and severe mental retardation.

• Childhood Kidney Diseases
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• v.9 no.1
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• pp.69-75
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• 2005

Purpose : The most important management of congenital hydronephrosis consists of the early diagnosis and evaluation of the pathologic abnormalities of congenital hydronephrosis. This study was conducted to investigate the different causes of hydronephrosis and its clinical outcome. Methods : 54 live neonates who were hospitalized and diagnosed with congenital hydronephrosis at Chungnam National University Hospital from Aug. 1998 to Aug. 2003 were retrospectively analyzed. Results : Hydronephrosis(renal pelvic AP diameter $gt;5 mm) was postnatally detected in 54 cases(2.1%) among 2,539 neonates who were hospitalized from Aug. 1998 to Aug. 2003. There were three times more males than females. Additional imaging studies revealed that ureteropelvic junction obstruction was the most common postnatal diagnosis(48.7%), followed by multicystic dysplastic kidney, vesicoureteral reflux and duplication kidney with ureterocele. Spontaneous regression of hydronephrosis was revealed in 25 renal units(75.8% ) of mild hydronephrosis, 14 renal units of moderate hydronephrosis and 1 renal unit of severe hydronephrosis. Operative correction were carried out in 14 renal units(70%) of severe hydronephrosls. Conclusion : The most common established cause of congenital hydronephrosis in this study was ureteropelvic junction obstruction. There are many cases of spontaneous regression in mild to moderate congenital hydronephrosis. Urinary tract infections occur in many neonates with hydronephrosis. Therefore, early detection and evaluation of congenital hydronephrosis and continuous follow-up at regular intervals are necessary for conservation of renal function. (J Korean Soc Pediatr Nephrol 2005;9:69-75)